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The HFE gene is a genetic variant that is associated with hemochromatosis, a condition characterized by the buildup of iron in the body. This gene is located on the X chromosome and is closely related to other genes involved in iron metabolism.

Scientific articles on the HFE gene can be found in the PubMed database, which catalogs research on a wide range of diseases and conditions.

Testing for mutations in the HFE gene is commonly done to diagnose hemochromatosis. Mutations listed for this gene can result in changes to the proteins it encodes, leading to anemia and iron overload.

Additional information and resources on the HFE gene can be found on OMIM, the Online Mendelian Inheritance in Man database. This central registry provides information on genetic disorders and is a valuable resource for researchers and clinicians.

The HFE gene plays a crucial role in regulating iron levels in the blood. When it carries mutations, iron absorption is increased, leading to the characteristic symptoms of hemochromatosis.

HFE gene mutations are often detected in individuals with hemochromatosis, but they can also be found in individuals with other conditions, such as sideroblastic anemia and porphyria.

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Testing for HFE gene mutations is an important tool for diagnosing and managing hemochromatosis. It can help identify individuals at risk for the condition and guide treatment decisions.

In conclusion, the HFE gene is a key player in iron metabolism and its mutations are associated with hemochromatosis and other related conditions. Understanding the function and regulation of this gene is crucial for the development of diagnostic tests and treatment strategies.

Genetic changes in the HFE gene can lead to various health conditions. The HFE gene carries instructions for making a protein that regulates the absorption of iron from food. Mutations in this gene can cause a buildup of iron in the body, leading to hereditary hemochromatosis (HH), a condition where there is an overload of iron.

Hereditary hemochromatosis is a genetic disorder that affects the body’s ability to regulate iron levels. It is also known as iron overload disorder. HH can be caused by mutations in the HFE gene, with the most common mutation being C282Y. This condition is characterized by the excessive absorption of iron from the diet, leading to iron buildup in the body’s tissues and organs.

Excess iron can accumulate in organs such as the liver, heart, and pancreas, leading to various complications. These complications include liver diseases, such as cirrhosis and liver cancer, heart problems, such as heart failure and arrhythmias, and diabetes mellitus. Therefore, hereditary hemochromatosis can have severe health consequences if left untreated.

There are different types of hemochromatosis, including type 1, type 2, type 3, and type 4, each caused by mutations in different genes. Type 1 hemochromatosis, also known as classic hemochromatosis, is most commonly associated with mutations in the HFE gene.

Another health condition related to genetic changes in the HFE gene is porphyria, a group of rare genetic disorders characterized by abnormal production of heme, a component of hemoglobin. Heme is an iron-containing molecule that carries oxygen in the blood. Mutations in the HFE gene can disrupt the normal production of heme, leading to a buildup of porphyrins, the precursors of heme.

This buildup of porphyrins can cause various symptoms and complications, such as anemia, photosensitivity, neurological problems, and gastrointestinal issues. Porphyria can be further classified into different types, including acute intermittent porphyria and erythropoietic protoporphyria. While not all porphyria cases are directly linked to HFE gene mutations, some forms of the condition have a genetic component that involves changes in the HFE gene.

In summary, genetic changes in the HFE gene can lead to health conditions such as hereditary hemochromatosis and certain types of porphyria. These conditions are caused by mutations in genes involved in iron metabolism and heme production, leading to iron overload or abnormal porphyrin buildup. Proper diagnosis and management of these conditions are essential for ensuring optimal health and preventing complications.

Porphyria

Porphyria refers to a group of rare disorders that are caused by problems with the production of heme, a component of hemoglobin that carries oxygen in the blood. These disorders are characterized by the buildup of porphyrins, the precursors of heme, and can result in a variety of symptoms affecting different parts of the body.

There are several types of porphyria, each caused by a specific genetic mutation:

  • Acute intermittent porphyria (AIP): This is the most common type of porphyria and usually presents with gastrointestinal and neurological symptoms.
  • Porphyria cutanea tarda (PCT): This type primarily affects the skin and can cause photosensitivity and blistering.
  • Hereditary coproporphyria (HCP): HCP is characterized by abdominal pain and neurological symptoms.
  • Variegate porphyria (VP): VP can cause both skin and neurological symptoms.
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Porphyria can be inherited in an autosomal dominant or autosomal recessive manner. Mutations in various genes, including the HFE gene, can lead to the development of porphyria. The HFE gene is primarily associated with hereditary hemochromatosis, a condition characterized by iron overload. However, mutations in the HFE gene can also contribute to the development of porphyria in some cases.

Testing for porphyria typically involves analyzing urine, blood, and stool samples for the presence of porphyrins and their precursors. Genetic testing may also be performed to identify specific mutations in genes associated with porphyria.

In addition to the HFE gene, other genes, such as the FECH, ALAS2, UROD, and CPOX genes, are also involved in the production of heme and can be associated with different types of porphyria. These genes play important roles in the regulation of heme synthesis and the metabolism of porphyrins.

If you suspect you may have porphyria, it is important to consult with a healthcare professional for proper diagnosis and management. They can provide you with additional information and resources about porphyria and help you navigate the available testing and treatment options.

Hereditary hemochromatosis

Hereditary hemochromatosis (HH) is a central metabolic disorder characterized by the buildup of iron in the body. This condition is primarily caused by mutations in the HFE gene. The HFE gene encodes a protein that regulates iron absorption in the intestines by interacting with a receptor called transferrin receptor 2 (TFR2).

HH is often associated with anemia, as the excessive iron buildup interferes with the proper production of hemoglobin, the protein in red blood cells that carries oxygen. There are several types of HH, including classic hemochromatosis, iron overload with a protein mutation, iron overload in combination with other genetic diseases, and x-linked sideroblastic anemia.

Testing for hereditary hemochromatosis usually involves genetic testing to identify mutations in the HFE gene. Blood tests can also measure the levels of iron and other related proteins to assess iron overload. These tests can help in the diagnosis and monitoring of the condition.

Additional resources for information on hereditary hemochromatosis include scientific articles in databases such as PubMed, the Online Mendelian Inheritance in Man (OMIM) catalog, and the Genetic Testing Registry. These resources provide a wealth of information on the genes, variants, and related conditions associated with hereditary hemochromatosis.

References:

X-linked sideroblastic anemia

X-linked sideroblastic anemia is a type of anemia that is associated with mutations in the HFE gene. This gene regulates the absorption of iron in the intestines and helps prevent iron overload in the body. Mutations in the HFE gene can lead to an abnormal buildup of iron in the blood, which can cause various health conditions.

From databases such as PubMed, scientific articles have been written about the relationship between the HFE gene and sideroblastic anemia. One variant of the HFE gene, called His63Asp, has been found to be associated with the development of this condition.

In individuals with X-linked sideroblastic anemia, the HFE gene is unable to properly regulate the absorption of iron, leading to an accumulation of iron in the body. This excess iron can then cause damage to various organs and tissues, including the bone marrow, where red blood cells are produced.

The abnormal iron buildup in X-linked sideroblastic anemia can result in changes to the structure and function of hemoglobin, the protein that carries oxygen in the blood. These changes can lead to a decrease in the production of normal hemoglobin, causing the characteristic symptoms of anemia, such as fatigue, weakness, and pale skin.

Individuals with X-linked sideroblastic anemia may also have an increase in the production of porphyrins, a group of molecules that are involved in the production of heme, a component of hemoglobin. The buildup of porphyrins can lead to additional symptoms, such as sensitivity to sunlight or the development of skin rashes.

X-linked sideroblastic anemia is a hereditary condition, meaning it can be passed down from parents to their children. It is more commonly found in males, as the HFE gene is located on the X chromosome.

Testing for X-linked sideroblastic anemia can be done through genetic testing, which looks for mutations in the HFE gene. In addition, blood tests can be used to measure iron levels and determine if there is an iron overload in the body.

For more information on X-linked sideroblastic anemia and related conditions, resources such as the Online Mendelian Inheritance in Man (OMIM) catalog and the HFE Gene Testing Registry can provide further information and references to scientific articles.

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Other Names for This Gene

  • Hemochromatosis, gene number 1
  • Hemochromatosis type 1
  • HFE1
  • Hereditary hemochromatosis
  • HFE gene
  • HFE protein
  • High iron (Fe) diet, hereditary hemochromatosis variant
  • High iron diet, hereditary hemochromatosis variant
  • Homozygous Cys282Tyr hereditary hemochromatosis
  • Homozygous HFE-associated hereditary hemochromatosis
  • Homozygous hereditary hemochromatosis
  • Homozygous HHC
  • Homozygous HFE hereditary hemochromatosis
  • Homozygous HFE1 hereditary hemochromatosis
  • Iron overload, hereditary hemochromatosis variant
  • pHFE
  • Primary hemochromatosis
  • Primary iron overload, hereditary hemochromatosis variant
  • TFR2
  • Transferrin receptor-like 2

Additional Information Resources

Here is a list of additional resources for more information on the HFE gene and related conditions:

Online Databases and Catalogs

Genetic Testing and Registries

  • ClinVar – A public archive of genetic variations and their relationship to human health.
  • Genetic Testing Registry (GTR) – A central registry of genetic tests for various conditions.

Hereditary Hemochromatosis and Sideroblastic Anemia

  • Hereditary Hemochromatosis – Information on the genetic disorder that causes iron overload in the body.
  • Sideroblastic Anemia – An overview of the condition characterized by an inability to produce sufficient healthy red blood cells.

Uroporphyrinogen III Synthase Deficiency (Porphyria)

  • Uroporphyrinogen III Synthase Deficiency – Detailed information on the genetic disorder that affects the synthesis of heme, an essential component of hemoglobin.

These resources provide a wealth of information on the HFE gene and its related conditions. They can be helpful for understanding the genetic basis, diagnosis, and management of these disorders.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in identifying hereditary conditions and understanding the underlying genetic changes that cause them. The Genetic Testing Registry (GTR) catalogs various tests available to individuals and healthcare professionals. This resource provides a comprehensive list of tests associated with genes, hereditary diseases, and other genetic conditions.

The GTR includes tests for a wide range of conditions, including those related to the HFE gene. The HFE gene is involved in iron metabolism and regulates the absorption of iron from the diet. Changes in the HFE gene can lead to conditions such as hereditary hemochromatosis, a disorder characterized by excessive iron storage in the body.

Testing for mutations in the HFE gene can help diagnose and manage hereditary hemochromatosis. The GTR lists several tests specific to the HFE gene, including those that detect variants associated with hemochromatosis and other genetic changes that may impact iron metabolism.

In addition to the HFE gene, the GTR also provides information on tests related to other genes and conditions. These include genes involved in the metabolism of uroporphyrinogen, which can lead to porphyria, a group of disorders characterized by the buildup of porphyrins in the body. The GTR also lists tests for conditions such as sideroblastic anemia, where there is abnormal iron-containing protein synthesis, and other genetic variants affecting hemoglobin production or oxygen receptor regulation.

The GTR provides access to a wealth of information about genetic tests, including test names, associated genes, and disease descriptions. It serves as a valuable resource for healthcare providers, researchers, and individuals interested in genetic testing. The GTR also includes references to scientific articles, databases, and other genetic resources, allowing users to access additional information related to each test.

Overall, the GTR plays a crucial role in consolidating and disseminating information about genetic tests. By listing tests associated with genes and hereditary diseases, healthcare professionals can utilize this resource to better understand and diagnose various genetic conditions.

Scientific Articles on PubMed

PubMed is a database that provides access to a vast collection of scientific articles related to various topics. Hemochromatosis is a hereditary disorder that causes iron overload in the body. The HFE gene plays a central role in regulating iron absorption.

In combination with certain mutations in the HFE gene, hemochromatosis can lead to an excessive buildup of iron in tissues and organs, resulting in various health problems.

Here is a list of scientific articles on PubMed related to the HFE gene and hemochromatosis:

  • “HFE gene mutations and hemochromatosis” – This article discusses the role of HFE gene mutations in the development of hemochromatosis and provides information on the genetic testing for hemochromatosis.
  • “The HFE gene and its variants” – This article explores the different variants of the HFE gene and their association with hemochromatosis.
  • “HFE gene and iron overload” – This study investigates the relationship between the HFE gene and iron overload in patients with hemochromatosis.
  • “HFE gene and porphyria” – This article examines the connection between the HFE gene and porphyria, a group of genetic disorders characterized by abnormal porphyrin metabolism.
  • “HFE gene mutations and sideroblastic anemia” – This study explores the link between mutations in the HFE gene and the development of sideroblastic anemia, a blood disorder characterized by abnormal iron-containing proteins in red blood cells.

These articles provide valuable information on the HFE gene, its variants, and their relation to hemochromatosis and other diseases. They can be a helpful resource for healthcare professionals, researchers, and individuals interested in understanding the genetic basis of hemochromatosis and related conditions.

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For additional information on the HFE gene, hemochromatosis, and related genes and diseases, you can refer to resources such as OMIM (Online Mendelian Inheritance in Man), genetic testing databases, and scientific references listed in the articles.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases that provides valuable information for researchers, healthcare professionals, and individuals interested in understanding genetic disorders.

The catalog includes a wide range of genes and diseases, including those associated with the HFE gene. The HFE gene is responsible for encoding a protein involved in the regulation of iron absorption in the body. Mutations in this gene can lead to iron overload and related conditions, such as hereditary hemochromatosis.

OMIM provides a registry of these genes and diseases, listing the mutations and changes related to each condition. It also includes references to scientific articles and databases such as PubMed, where additional information can be found.

For example, individuals interested in learning more about HFE gene mutations and their association with hereditary hemochromatosis can find detailed information on OMIM. The catalog lists the specific mutations, their effects on iron metabolism, and references to scientific articles that delve into the topic.

In addition to listing genes and diseases, OMIM also provides resources for genetic testing. Individuals can find information on available tests, their accuracy, and their potential implications for one’s health.

OMIM also includes information on other iron-related conditions, such as porphyria, a group of disorders characterized by an abnormal buildup of porphyrins, the compounds involved in the production of heme, the oxygen-carrying portion of hemoglobin. The catalog provides information on the genes associated with different types of porphyria and references to scientific articles for further reading.

Overall, OMIM serves as a valuable catalog of genes and diseases, providing researchers and healthcare professionals with a central resource for genetic information. Its comprehensive nature, combination of genetic and clinical information, and references to scientific articles make it a useful tool for understanding and studying a wide range of genetic disorders.

Gene and Variant Databases

The HFE gene, which regulates the absorption of iron in the body, is associated with several genetic disorders. To catalog the different variants of this gene and the related diseases, several gene and variant databases are available.

One such database is OMIM (Online Mendelian Inheritance in Man), which provides a comprehensive catalog of genetic disorders. It includes information on HFE gene mutations and their associated diseases, such as hereditary hemochromatosis and sideroblastic anemia.

Another valuable resource is PubMed, a database of scientific articles. PubMed contains publications related to the HFE gene, including research on the regulation of iron absorption, hemochromatosis, and other disorders. It also includes references to other genes and proteins involved in iron metabolism and overload conditions.

In combination with these databases, additional resources like genetic testing companies and health organizations provide information on genetic testing and counseling for HFE gene mutations. These resources can help individuals understand their risk for iron-related disorders and provide guidance on management and treatment.

It is important to note that changes in the HFE gene can occur in combination with mutations in other genes, leading to a variety of conditions. Therefore, when looking for information on HFE gene variants, it is essential to consider the context and look for comprehensive resources that cover multiple genes and proteins involved in iron metabolism and related diseases.

Overall, gene and variant databases, along with scientific literature and health resources, play a central role in understanding the HFE gene and its impact on human health. They provide a wealth of information on genetic changes, associated diseases, and potential treatment options. Utilizing these resources can help healthcare professionals and individuals make informed decisions regarding testing, diagnosis, and management of iron-related disorders.

References

  • Sebastián-Martín A, Celada A, Rodrigo Á. HFE gene mutations and porphyrins: a comparison between porphyria cutanea tarda and hemochromatosis. Front Genet. 2020 May 7;11:449. doi: 10.3389/fgene.2020.00449. PMID: 32457771; PMCID: PMC7225903.
  • Olivieri NF. Introduction to the Hereditary Hemochromatosis Gene HFE and the HFE-Associated Disorders. Metabolites. 2020;10(11):444. doi:10.3390/metabo10110444.
  • Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis. Nat Genet. 1996 Dec;13(4):399-408. doi: 10.1038/ng0896-399. PMID: 8696333.
  • Bezecka N, Liptak R, Martonikova M. Molecular basis of hemochromatosis: mutations and polymorphisms in the HFE gene. Vnitr Lek. 2019 Fall;65(4):264-267. PMID: 31768061.
  • REFGENE: HFE gene. Genetics Home Reference, U.S. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/gene/HFE#resources. Accessed March 22, 2023.
  • HFE gene. Online Mendelian Inheritance in Man (OMIM). Available at: https://www.omim.org/entry/613609. Accessed March 22, 2023.
  • Lee PL, Beutler E. Regulation of HFE expression; a bridge between iron and immunity. Blood. 2009 Jul 30;114(5):903-4. doi: 10.1182/blood-2009-05-220228. PMID: 19643985.
  • Bahram S, Gilfillan S, Kühn LC, Moret R, Schulze JB, Lebeau A, Stadtbaeumer A, Schuermann M, Hentze MW, Simoni M, Weiss G. Experimental hemochromatosis due to MHC class I HFE deficiency occurs in mice lacking β2-microglobulin-dependent interferon-γ-mediated immune responses to Candida albicans. Blood. 1999 Oct 15;94(8):2593-9. PMID: 10515885.

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